Why this database was created...
Over the past ten years, mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, with virtually hundreds of mutations. The associated phenotypes range from benign febrile seizures to extremely serious conditions like Dravet syndrome (a.k.a. severe myoclonic epilepsy in infancy or SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 exists in the brain in 3 different isoforms: full-length (2009 AA) as well as two shorter versions that lack 11 or 28 amino acids compared to the former. This online database – SCN1A infobase – establishes a standardized nomenclature for Nav1.1 variants so as to provide a platform from which future mutation analyses can be started without up-front data normalization.
This web site is part of a publication in the Journal Brain & Development, specifically the article "A catalog of SCN1A variants", Brain Dev 31: 114 (2009).
C. Lossin, Ph.D.
UC Davis Medical Center, Department of Neurology - September 19th, 2008